Cargando…
PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy
Autores principales: | , , , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340380/ https://www.ncbi.nlm.nih.gov/pubmed/30697592 http://dx.doi.org/10.1212/NXG.0000000000000306 |
_version_ | 1783388786144575488 |
---|---|
author | de Paiva, Anderson Rodrigues Brandão Lynch, David S. Melo, Uirá Souto Lucato, Leandro Tavares Freua, Fernando de Assis, Bruno Della Ripa Barcelos, Isabella Listik, Clarice de Castro dos Santos, Diego Macedo-Souza, Lúcia Inês Houlden, Henry Kok, Fernando |
author_facet | de Paiva, Anderson Rodrigues Brandão Lynch, David S. Melo, Uirá Souto Lucato, Leandro Tavares Freua, Fernando de Assis, Bruno Della Ripa Barcelos, Isabella Listik, Clarice de Castro dos Santos, Diego Macedo-Souza, Lúcia Inês Houlden, Henry Kok, Fernando |
author_sort | de Paiva, Anderson Rodrigues Brandão |
collection | PubMed |
description | |
format | Online Article Text |
id | pubmed-6340380 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Wolters Kluwer |
record_format | MEDLINE/PubMed |
spelling | pubmed-63403802019-01-29 PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy de Paiva, Anderson Rodrigues Brandão Lynch, David S. Melo, Uirá Souto Lucato, Leandro Tavares Freua, Fernando de Assis, Bruno Della Ripa Barcelos, Isabella Listik, Clarice de Castro dos Santos, Diego Macedo-Souza, Lúcia Inês Houlden, Henry Kok, Fernando Neurol Genet Clinical/Scientific Notes Wolters Kluwer 2019-01-16 /pmc/articles/PMC6340380/ /pubmed/30697592 http://dx.doi.org/10.1212/NXG.0000000000000306 Text en Copyright © 2019 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND) (http://creativecommons.org/licenses/by-nc-nd/4.0/) , which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
spellingShingle | Clinical/Scientific Notes de Paiva, Anderson Rodrigues Brandão Lynch, David S. Melo, Uirá Souto Lucato, Leandro Tavares Freua, Fernando de Assis, Bruno Della Ripa Barcelos, Isabella Listik, Clarice de Castro dos Santos, Diego Macedo-Souza, Lúcia Inês Houlden, Henry Kok, Fernando PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy |
title | PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy |
title_full | PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy |
title_fullStr | PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy |
title_full_unstemmed | PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy |
title_short | PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy |
title_sort | pus3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy |
topic | Clinical/Scientific Notes |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340380/ https://www.ncbi.nlm.nih.gov/pubmed/30697592 http://dx.doi.org/10.1212/NXG.0000000000000306 |
work_keys_str_mv | AT depaivaandersonrodriguesbrandao pus3mutationsareassociatedwithintellectualdisabilityleukoencephalopathyandnephropathy AT lynchdavids pus3mutationsareassociatedwithintellectualdisabilityleukoencephalopathyandnephropathy AT melouirasouto pus3mutationsareassociatedwithintellectualdisabilityleukoencephalopathyandnephropathy AT lucatoleandrotavares pus3mutationsareassociatedwithintellectualdisabilityleukoencephalopathyandnephropathy AT freuafernando pus3mutationsareassociatedwithintellectualdisabilityleukoencephalopathyandnephropathy AT deassisbrunodellaripa pus3mutationsareassociatedwithintellectualdisabilityleukoencephalopathyandnephropathy AT barcelosisabella pus3mutationsareassociatedwithintellectualdisabilityleukoencephalopathyandnephropathy AT listikclarice pus3mutationsareassociatedwithintellectualdisabilityleukoencephalopathyandnephropathy AT decastrodossantosdiego pus3mutationsareassociatedwithintellectualdisabilityleukoencephalopathyandnephropathy AT macedosouzaluciaines pus3mutationsareassociatedwithintellectualdisabilityleukoencephalopathyandnephropathy AT houldenhenry pus3mutationsareassociatedwithintellectualdisabilityleukoencephalopathyandnephropathy AT kokfernando pus3mutationsareassociatedwithintellectualdisabilityleukoencephalopathyandnephropathy |